Phosphofructokinase Deficiency

Details about the disease

PFK leads to a lack of the phosphofructokinase enzyme, without which muscle cells and red blood cells are unable to produce enough adequate energy for their needs.

Clinical signs

Intermittent clinical signs include weakness, lethargy (lack of energy), exercise intolerance, poor performance, muscle cramps, anaemia (reduced number of red blood cells), jaundice (yellowing of the skin or whites of the eyes) and dark-coloured urine. Dark-coloured urine, a hallmark of this disorder, usually appears after strenuous exercise or after excessive barking, panting or heat exposure.

How it is inherited

The disease is described as an autosomal recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.


Sire

  Dam   Offspring
         
Clear
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Clear
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100% Clear
         
clear
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carrier
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50%  Clear + 50% carriers
         
clear
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affected
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100% carriers
         
carrier
x
Clear
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50%  Clear + 50% carriers
         
carrier
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carrier
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25% clear + 25% affected + 50% carriers
         
carrier
x
affected
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50% carriers + 50% affected
         
affected
x
Clear
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100%  carriers
         
affected
x
carrier
>
50% carriers + 50% affected
         
affected
x
affected
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100% affected